Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1303044966
rs1303044966
ABHD12
C 0.700 CausalMutation CLINVAR

dbSNP: rs1339616347
rs1339616347
WRN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs142285818
rs142285818
RHO
G 0.700 CausalMutation CLINVAR

dbSNP: rs1423415130
rs1423415130
XYLT2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554781700
rs1554781700
COL5A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568480054
rs1568480054
LIM2
A 0.700 CausalMutation CLINVAR

dbSNP: rs727502810
rs727502810
TUB ; RIC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
G 0.700 GeneticVariation CLINVAR

dbSNP: rs863225045
rs863225045
ALDH18A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
0.010 GeneticVariation BEFREE We predicted that this led to a nonconservative R287W substitution in exon 4 that cosegregated with cataracts. 10729115

2000
dbSNP: rs1215603718
rs1215603718
AQP1
0.010 GeneticVariation BEFREE To establish pathophysiological relevance of cataract formation, the Xenopus laevis oocyte expression system was employed to evaluate functional defects in the mutant proteins, E134G and T138R. 11001937

2000
dbSNP: rs121917867
rs121917867
MIP
0.010 GeneticVariation BEFREE To establish pathophysiological relevance of cataract formation, the Xenopus laevis oocyte expression system was employed to evaluate functional defects in the mutant proteins, E134G and T138R. 11001937

2000
dbSNP: rs121917869
rs121917869
MIP
0.010 GeneticVariation BEFREE To establish pathophysiological relevance of cataract formation, the Xenopus laevis oocyte expression system was employed to evaluate functional defects in the mutant proteins, E134G and T138R. 11001937

2000
dbSNP: rs80338829
rs80338829
MYH9
0.010 GeneticVariation BEFREE Two cases had Alport manifestations including deafness, nephritis, and cataracts and had R1165C and E1841K mutations, respectively. 11776386

2001
dbSNP: rs2070074
rs2070074
GALT
0.010 GeneticVariation BEFREE Frequencies of Q188R, K285N, N314D and Duarte-2 alleles in the cataract group were 0.00%, 5.0%, 11.7% and 3.3%, respectively. 14707519

2003
dbSNP: rs1463326176
rs1463326176
CRYGD ; LOC100507443
0.060 GeneticVariation BEFREE Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761

2005
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
0.060 GeneticVariation BEFREE Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761

2005
dbSNP: rs121909596
rs121909596
CRYGD ; LOC100507443
0.030 GeneticVariation BEFREE The R58H mutation described in this Mexican family is identical to that demonstrated previously in three unrelated families with aculeiform cataract, suggesting that this type of cataract has a specific molecular basis represented by the Arg to His change at residue 58 of CRYGD. 16030500

2005
dbSNP: rs139609998
rs139609998
CRYGB ; LOC100507443
0.010 GeneticVariation BEFREE The R36S mutation in CRYGD identified in this Chinese family caused a nuclear golden crystal cataract phenotype not described before. 16288201

2005
dbSNP: rs398122947
rs398122947
CRYAA ; LOC107987300
0.020 GeneticVariation BEFREE Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. 16862070

2006
dbSNP: rs886055527
rs886055527
CRYGD ; LOC100507443
0.010 GeneticVariation BEFREE Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. 16862070

2006
dbSNP: rs8702
rs8702
KLC1
0.020 GeneticVariation BEFREE The GG genotype of rs8702 was significantly over-represented among cataract patients as compared to controls (63% versus 52%, respectively, p=0.008) and associated with an age-adjusted odds ratio for cataract development of 1.61 (95% confidence interval 1.12-2.31). 17653041

2007
dbSNP: rs118203966
rs118203966
CHMP4B
0.010 GeneticVariation BEFREE In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K). 17701905

2007